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<meta name="keywords" content="C3151356, disease or syndrome, hepacam, megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development, megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without intellectual disability, megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation, mlc2b, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=462706
|
||
ConceptID=C3151356
|
||
-->
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||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1535/bin/mlc-Image001.gif" src-large="/books/NBK1535/bin/mlc-Image001.jpg" /></a><br /><a href="/books/NBK1535/figure/mlc.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability<span class="h1sub">(MLC2B)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462706</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3151356</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; MLC2B</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HEPACAM - ID: 220296 - NCBI Gene" href="/gene/220296" class="medgenPMinfo">HEPACAM</a> (11q24.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013491" target="_blank">MONDO:0013491</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613926" target="_blank">613926</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1535" target="_blank">Megalencephalic Leukoencephalopathy with Subcortical Cysts</a></div><div>Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with classic MLC present with macrocephaly, often in association with seizures, gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings, mild gross motor developmental delays, and late-onset cognitive deterioration. Macrocephaly, observed in most affected individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable, with head circumferences reaching four to six standard deviations greater than the mean. After the first year of life, head growth trajectory typically normalizes and growth follows a line parallel to, although several standard deviations above, the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, pyramidal dysfunction, and brisk deep tendon reflexes. Early-onset seizures are common, and approximately 60% of individuals have epilepsy that is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Cognitive deterioration occurs later in the course of the disease and is usually mild in severity. Overall disease severity varies, with some individuals being able to ambulate independently for only a few years from disease onset to other individuals continuing to independently walk in the fifth decade of life. Individuals with improving MLC have a similar initial presentation with delayed cognitive or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some individuals have intellectual disability that is stable, with or without autism spectrum disorder. Epilepsy is much less frequent than in classic MLC. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1535#mlc.Summary" target="NBK1535">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.GeneReview_Scope" target="NBK1535">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Diagnosis" target="NBK1535">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Clinical_Characteristics" target="NBK1535">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Genetically_Related_Allelic_Disorder" target="NBK1535">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Differential_Diagnosis" target="NBK1535">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Management" target="NBK1535">Management</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Genetic_Counseling" target="NBK1535">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Resources" target="NBK1535">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Molecular_Genetics" target="NBK1535">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.Chapter_Notes" target="NBK1535">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1535#mlc.References" target="NBK1535">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Rogier Min | Truus EM Abbink | Marjo S van der Knaap <a href="/books/NBK1535" target="NBK1535" title="NCBI Bookshelf: Megalencephalic Leukoencephalopathy with Subcortical Cysts">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Autosomal dominant remitting megalencephalic leukoencephalopathy with subcortical cysts-2B (MLC2B) is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have impaired intellectual development (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).
|
||
For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004). <a target="_blank" href="http://www.omim.org/entry/613926">http://www.omim.org/entry/613926</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65141"><div><strong>Megalencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65141</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65141">Feature record</a> | <a href="/medgen?term=%22Megalencephaly%22%5BClinical%20Features%5D%20OR%2065141%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66690"><div><strong>Clumsiness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66690</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0233844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66690">Feature record</a> | <a href="/medgen?term=%22Clumsiness%22%5BClinical%20Features%5D%20OR%2066690%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347007"><div><strong>Diffuse swelling of cerebral white matter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347007</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347007">Feature record</a> | <a href="/medgen?term=%22Diffuse%20swelling%20of%20cerebral%20white%20matter%22%5BClinical%20Features%5D%20OR%20347007%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870477"><div><strong>Diffuse white matter abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870477</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4024923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870477">Feature record</a> | <a href="/medgen?term=%22Diffuse%20white%20matter%20abnormalities%22%5BClinical%20Features%5D%20OR%20870477%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clumsiness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diffuse swelling of cerebral white matter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diffuse white matter abnormalities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65141" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858854[DISCUI]&test_type=Clinical" ref="ncbi_uid=347006">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1858854[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=347006">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347006" target="_blank" href="/omim/604004">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=347006">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347006" ref="ncbi_uid=347006">V</a></span></span><span class="TLline"><a href="/medgen/347006" ref="tree=GTR&ncbi_uid=347006&link_uid=347006" title="View MedGen record for 'Megalencephalic leukoencephalopathy with subcortical cysts'">Megalencephalic leukoencephalopathy with subcortical cysts</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5779875[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826136">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1826136" target="_blank" href="/omim/604004">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=1826136">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826136" ref="ncbi_uid=1826136">V</a></span></span><span class="TLline"><a href="/medgen/1826136" ref="tree=GTR&ncbi_uid=1826136&link_uid=1826136" title="View MedGen record for 'Megalencephalic leukoencephalopathy with subcortical cysts 1'">Megalencephalic leukoencephalopathy with subcortical cysts 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151355[DISCUI]&test_type=Clinical" ref="ncbi_uid=462705">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3151355[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462705">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462705" target="_blank" href="/omim/611642">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=462705">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462705" ref="ncbi_uid=462705">V</a></span></span><span class="TLline"><a href="/medgen/462705" ref="tree=GTR&ncbi_uid=462705&link_uid=462705" title="View MedGen record for 'Megalencephalic leukoencephalopathy with subcortical cysts 2A'">Megalencephalic leukoencephalopathy with subcortical cysts 2A</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151356[DISCUI]&test_type=Clinical" ref="ncbi_uid=462706">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3151356[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462706">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462706" target="_blank" href="/omim/611642">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1535/" ref="ncbi_uid=462706">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462706" ref="ncbi_uid=462706">V</a></span></span><span class="TLline">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/866800" ref="tree=MeSH" title="MedGen record for Abnormal CNS myelination">Abnormal CNS myelination</a></span><ul><li><span class="TLline"><a href="/medgen/6070" ref="tree=MeSH" title="MedGen record for Leukodystrophy">Leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/347006" ref="tree=MeSH" title="MedGen record for Megalencephalic leukoencephalopathy with subcortical cysts">Megalencephalic leukoencephalopathy with subcortical cysts</a></span><ul><li><span class="matched_ds">Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35490285">Health Supervision for Children and Adolescents With Down Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bull MJ,
|
||
Trotter T,
|
||
Santoro SL,
|
||
Christensen C,
|
||
Grout RW;
|
||
COUNCIL ON GENETICS,
|
||
Burke LW,
|
||
Berry SA,
|
||
Geleske TA,
|
||
Holm I,
|
||
Hopkin RJ,
|
||
Introne WJ,
|
||
Lyons MJ,
|
||
Monteil DC,
|
||
Scheuerle A,
|
||
Stoler JM,
|
||
Vergano SA,
|
||
Chen E,
|
||
Hamid R,
|
||
Downs SM,
|
||
Grout RW,
|
||
Cunniff C,
|
||
Parisi MA,
|
||
Ralston SJ,
|
||
Scott JA,
|
||
Shapira SK,
|
||
Spire P</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2022 May 1;149(5)
|
||
doi: 10.1542/peds.2022-057010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35490285" target="_blank">35490285</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29995837">Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kline AD,
|
||
Moss JF,
|
||
Selicorni A,
|
||
Bisgaard AM,
|
||
Deardorff MA,
|
||
Gillett PM,
|
||
Ishman SL,
|
||
Kerr LM,
|
||
Levin AV,
|
||
Mulder PA,
|
||
Ramos FJ,
|
||
Wierzba J,
|
||
Ajmone PF,
|
||
Axtell D,
|
||
Blagowidow N,
|
||
Cereda A,
|
||
Costantino A,
|
||
Cormier-Daire V,
|
||
FitzPatrick D,
|
||
Grados M,
|
||
Groves L,
|
||
Guthrie W,
|
||
Huisman S,
|
||
Kaiser FJ,
|
||
Koekkoek G,
|
||
Levis M,
|
||
Mariani M,
|
||
McCleery JP,
|
||
Menke LA,
|
||
Metrena A,
|
||
O'Connor J,
|
||
Oliver C,
|
||
Pie J,
|
||
Piening S,
|
||
Potter CJ,
|
||
Quaglio AL,
|
||
Redeker E,
|
||
Richman D,
|
||
Rigamonti C,
|
||
Shi A,
|
||
Tümer Z,
|
||
Van Balkom IDC,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Genet</span>
|
||
2018 Oct;19(10):649-666.
|
||
doi: 10.1038/s41576-018-0031-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29995837" target="_blank">29995837</a><a href="/pmc/articles/PMC7136165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20466091">Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DT,
|
||
Adam MP,
|
||
Aradhya S,
|
||
Biesecker LG,
|
||
Brothman AR,
|
||
Carter NP,
|
||
Church DM,
|
||
Crolla JA,
|
||
Eichler EE,
|
||
Epstein CJ,
|
||
Faucett WA,
|
||
Feuk L,
|
||
Friedman JM,
|
||
Hamosh A,
|
||
Jackson L,
|
||
Kaminsky EB,
|
||
Kok K,
|
||
Krantz ID,
|
||
Kuhn RM,
|
||
Lee C,
|
||
Ostell JM,
|
||
Rosenberg C,
|
||
Scherer SW,
|
||
Spinner NB,
|
||
Stavropoulos DJ,
|
||
Tepperberg JH,
|
||
Thorland EC,
|
||
Vermeesch JR,
|
||
Waggoner DJ,
|
||
Watson MS,
|
||
Martin CL,
|
||
Ledbetter DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 May 14;86(5):749-64.
|
||
doi: 10.1016/j.ajhg.2010.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20466091" target="_blank">20466091</a><a href="/pmc/articles/PMC2869000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202b%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3670)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34346730">Persons With Intellectual and Developmental Disabilities in the Mental Health System: Part 1. Clinical Considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinals DA,
|
||
Hovermale L,
|
||
Mauch D,
|
||
Anacker L</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Serv</span>
|
||
2022 Mar 1;73(3):313-320.
|
||
Epub 2021 Aug 4
|
||
doi: 10.1176/appi.ps.201900504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34346730" target="_blank">34346730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24877706">Persons with intellectual disabilities and problematic sexual behaviors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Griffiths DM,
|
||
Fedoroff P</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Clin North Am</span>
|
||
2014 Jun;37(2):195-206.
|
||
Epub 2014 Apr 18
|
||
doi: 10.1016/j.psc.2014.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24877706" target="_blank">24877706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21236634">Prevalence of intellectual disability: a meta-analysis of population-based studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maulik PK,
|
||
Mascarenhas MN,
|
||
Mathers CD,
|
||
Dua T,
|
||
Saxena S</span><br />
|
||
<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2011 Mar-Apr;32(2):419-36.
|
||
Epub 2011 Jan 13
|
||
doi: 10.1016/j.ridd.2010.12.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21236634" target="_blank">21236634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3332359">Mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Healy A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
1987 Jul;9(1):15-22.
|
||
doi: 10.1542/pir.9-1-15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3332359" target="_blank">3332359</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4259793">Down's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkins RH,
|
||
Brody IA</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1971 Jul;25(1):88-90.
|
||
doi: 10.1001/archneur.1971.00490010098013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4259793" target="_blank">4259793</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29919)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36441387">Deciphering Intellectual Disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2023 Feb;90(2):160-167.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1007/s12098-022-04345-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36441387" target="_blank">36441387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29858292">Intellectual Disabilities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purugganan O</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2018 Jun;39(6):299-309.
|
||
doi: 10.1542/pir.2016-0116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29858292" target="_blank">29858292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196358">A clinical approach to developmental delay and intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasudevan P,
|
||
Suri M</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2017 Dec;17(6):558-561.
|
||
doi: 10.7861/clinmedicine.17-6-558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196358" target="_blank">29196358</a><a href="/pmc/articles/PMC6297696" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28577608">Intellectual Disability and Language Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marrus N,
|
||
Hall L</span><br />
|
||
<span class="medgenPMjournal">Child Adolesc Psychiatr Clin N Am</span>
|
||
2017 Jul;26(3):539-554.
|
||
doi: 10.1016/j.chc.2017.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28577608" target="_blank">28577608</a><a href="/pmc/articles/PMC5801738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25157020">Comprehensive evaluation of the child with intellectual disability or global developmental delays.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moeschler JB,
|
||
Shevell M;
|
||
Committee on Genetics</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2014 Sep;134(3):e903-18.
|
||
doi: 10.1542/peds.2014-1839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25157020" target="_blank">25157020</a><a href="/pmc/articles/PMC9923626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31157)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35799257">Physical activity and mental health in children and adolescents with intellectual disabilities: a meta-analysis using the RE-AIM framework.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang W,
|
||
Liang X,
|
||
Sit CH</span><br />
|
||
<span class="medgenPMjournal">Int J Behav Nutr Phys Act</span>
|
||
2022 Jul 7;19(1):80.
|
||
doi: 10.1186/s12966-022-01312-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35799257" target="_blank">35799257</a><a href="/pmc/articles/PMC9261031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32563898">Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montouris G,
|
||
Aboumatar S,
|
||
Burdette D,
|
||
Kothare S,
|
||
Kuzniecky R,
|
||
Rosenfeld W,
|
||
Chung S</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2020 Sep;110:107146.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1016/j.yebeh.2020.107146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32563898" target="_blank">32563898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31727225">Psychopharmacology of neurobehavioral disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mooney LN,
|
||
Dominick KC,
|
||
Erickson CA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2019;165:383-390.
|
||
doi: 10.1016/B978-0-444-64012-3.00023-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31727225" target="_blank">31727225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24877706">Persons with intellectual disabilities and problematic sexual behaviors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Griffiths DM,
|
||
Fedoroff P</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Clin North Am</span>
|
||
2014 Jun;37(2):195-206.
|
||
Epub 2014 Apr 18
|
||
doi: 10.1016/j.psc.2014.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24877706" target="_blank">24877706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21236634">Prevalence of intellectual disability: a meta-analysis of population-based studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maulik PK,
|
||
Mascarenhas MN,
|
||
Mathers CD,
|
||
Dua T,
|
||
Saxena S</span><br />
|
||
<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2011 Mar-Apr;32(2):419-36.
|
||
Epub 2011 Jan 13
|
||
doi: 10.1016/j.ridd.2010.12.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21236634" target="_blank">21236634</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9806)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26011045">Mortality in People with Intellectual Disabilities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heslop P,
|
||
Lauer E,
|
||
Hoghton M</span><br />
|
||
<span class="medgenPMjournal">J Appl Res Intellect Disabil</span>
|
||
2015 Sep;28(5):367-72.
|
||
Epub 2015 May 23
|
||
doi: 10.1111/jar.12196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26011045" target="_blank">26011045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23580204">Death, dying and intellectual disability research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Todd S,
|
||
Bernal J,
|
||
Forrester-Jones R</span><br />
|
||
<span class="medgenPMjournal">J Appl Res Intellect Disabil</span>
|
||
2013 May;26(3):183-5.
|
||
doi: 10.1111/jar.12027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23580204" target="_blank">23580204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17105461">Cognitive and behavioral outcome in West syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guzzetta F</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2006;47 Suppl 2:49-52.
|
||
doi: 10.1111/j.1528-1167.2006.00689.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17105461" target="_blank">17105461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12083281">Prevalence of childhood disintegrative disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fombone E</span><br />
|
||
<span class="medgenPMjournal">Autism</span>
|
||
2002 Jun;6(2):149-57.
|
||
doi: 10.1177/1362361302006002002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12083281" target="_blank">12083281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7328419">The Cohen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fryns JP,
|
||
Van den Berghe H</span><br />
|
||
<span class="medgenPMjournal">J Genet Hum</span>
|
||
1981 Dec;29(4):449-53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7328419" target="_blank">7328419</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12301)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38657963">Measurement Invariance in Intellectual and Developmental Disability Research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farmer C,
|
||
Kaat AJ,
|
||
Edwards MC,
|
||
Lecavalier L</span><br />
|
||
<span class="medgenPMjournal">Am J Intellect Dev Disabil</span>
|
||
2024 May 1;129(3):191-198.
|
||
doi: 10.1352/1944-7558-129.3.191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38657963" target="_blank">38657963</a><a href="/pmc/articles/PMC11095410" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28140743">The roles of motor activity and environmental enrichment in intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Giorgio A</span><br />
|
||
<span class="medgenPMjournal">Somatosens Mot Res</span>
|
||
2017 Mar;34(1):34-43.
|
||
Epub 2017 Jan 31
|
||
doi: 10.1080/08990220.2016.1278204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28140743" target="_blank">28140743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22954271">Predictors of bronchopulmonary dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trembath A,
|
||
Laughon MM</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2012 Sep;39(3):585-601.
|
||
doi: 10.1016/j.clp.2012.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22954271" target="_blank">22954271</a><a href="/pmc/articles/PMC3443959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21296554">Self-injurious behavior in people with profound intellectual disabilities: a meta-analysis of single-case studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denis J,
|
||
Van den Noortgate W,
|
||
Maes B</span><br />
|
||
<span class="medgenPMjournal">Res Dev Disabil</span>
|
||
2011 May-Jun;32(3):911-23.
|
||
Epub 2011 Feb 5
|
||
doi: 10.1016/j.ridd.2011.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21296554" target="_blank">21296554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1605216">Nomenclature guidelines for X-linked mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulley JC,
|
||
Kerr B,
|
||
Stevenson R,
|
||
Lubs H</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1992 Apr 15-May 1;43(1-2):383-91.
|
||
doi: 10.1002/ajmg.1320430159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1605216" target="_blank">1605216</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19305)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35799257">Physical activity and mental health in children and adolescents with intellectual disabilities: a meta-analysis using the RE-AIM framework.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang W,
|
||
Liang X,
|
||
Sit CH</span><br />
|
||
<span class="medgenPMjournal">Int J Behav Nutr Phys Act</span>
|
||
2022 Jul 7;19(1):80.
|
||
doi: 10.1186/s12966-022-01312-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35799257" target="_blank">35799257</a><a href="/pmc/articles/PMC9261031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33985586">Calcium channelopathies and intellectual disability: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kessi M,
|
||
Chen B,
|
||
Peng J,
|
||
Yan F,
|
||
Yang L,
|
||
Yin F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 13;16(1):219.
|
||
doi: 10.1186/s13023-021-01850-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33985586" target="_blank">33985586</a><a href="/pmc/articles/PMC8120735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25157020">Comprehensive evaluation of the child with intellectual disability or global developmental delays.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moeschler JB,
|
||
Shevell M;
|
||
Committee on Genetics</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2014 Sep;134(3):e903-18.
|
||
doi: 10.1542/peds.2014-1839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25157020" target="_blank">25157020</a><a href="/pmc/articles/PMC9923626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24700618">Epidemiology of fragile X syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter J,
|
||
Rivero-Arias O,
|
||
Angelov A,
|
||
Kim E,
|
||
Fotheringham I,
|
||
Leal J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jul;164A(7):1648-58.
|
||
Epub 2014 Apr 3
|
||
doi: 10.1002/ajmg.a.36511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24700618" target="_blank">24700618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20500706">Oral health of patients with intellectual disabilities: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anders PL,
|
||
Davis EL</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2010 May-Jun;30(3):110-7.
|
||
doi: 10.1111/j.1754-4505.2010.00136.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20500706" target="_blank">20500706</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1084)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3151356%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151356%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151356%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151356%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151356%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613926" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B,%20remitting,%20with%20or%20without%20intellectual%20disability" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202b%2C%20remitting%2C%20with%20or%20without%20intellectual%20disability)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=611642" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=220296[geneid]" target="_blank">View HEPACAM variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=613926" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Megalencephalic+leukoencephalopathy+with+subcortical+cysts+2b%2C+remitting%2C+with+or+without+mental+retardation/8801" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/megalencephalic_leukoencephalopathy_with_subcortical_cysts_2b_remitting_with_or_without_impaired_intellectual_development" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B,%20remitting,%20with%20or%20without%20intellectual%20disability" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15729/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301707" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B,%20remitting,%20with%20or%20without%20intellectual%20disability" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Megalencephalic%20leukoencephalopathy%20with%20subcortical%20cysts%202B,%20remitting,%20with%20or%20without%20intellectual%20disability%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=462706" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=462706" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3151356[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3151356[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3151356[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=462706" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=462706" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=462706" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=462706" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=462706" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=462706" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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||
</div>
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<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
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|
||
<div class="row">
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||
<div class="col-lg-12 centered-lg">
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
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</ul>
|
||
</nav>
|
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</div>
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||
</div>
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</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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